Cystic fibrosis (CF) is a genetic condition that affects around 162,000 people worldwide. It causes thick, sticky mucus to build up in the lungs and other organs, creating an environment where bacteria can thrive, leading to recurrent infections and progressive lung damage.
Although the introduction of cystic fibrosis transmembrane conductance regulator (CFTR) modulator therapies has improved outcomes for many people with CF, they are not a cure, and not everyone can benefit from them. The new treatments have also created new challenges in the detection and monitoring of respiratory infections, highlighting the need for new and effective diagnostic approaches.
The Cystic Fibrosis Antimicrobial Resistance (CF AMR) Syndicate supports the development of innovative diagnostic solutions by connecting developers with the expertise, resources, and networks needed to address these ongoing challenges.
Here, Jon Gibson, Lead Scientist, External Diagnostic Projects at Medicines Discovery Catapult, discusses the evolving diagnostic landscape in CF and highlights opportunities for addressing unmet needs in diagnosing and managing lung infections.
CF care has changed dramatically with the introduction of CFTR modulator therapies. How has this reshaped the role of respiratory diagnostics?
The introduction of CFTR modulators has been genuinely transformative for many people with CF, but they have also changed the diagnostic landscape in ways we are still catching up with. One of the most notable changes is that many people with the condition are producing less sputum. While this is an expected consequence of effective CFTR modulator therapy for many people, it also limits the use of sputum culture, long considered the standard of care for identifying respiratory pathogens and monitoring infection in CF. This creates new challenges for detecting infection and understanding what is happening in the lungs.
More broadly, these modulators have changed how exacerbations present. Although respiratory infections and pulmonary exacerbations still occur and require early recognition and management, many people no longer experience the familiar symptoms that once signalled worsening lung health. This makes it more challenging for both clinicians and people with CF to recognize when health is deteriorating. As these traditional warning signs become less reliable, there is an increasing need for new diagnostic approaches to detect early infection and health deterioration, supporting timely treatment.
What kinds of diagnostic capabilities will be needed to address the challenges of managing lung infections in CF over the next decade?
Whether based on host-response biomarkers, direct pathogen detection, or other innovative approaches, the goal should be the same: providing actionable, clinically meaningful information that supports earlier intervention, more informed treatment decisions, earlier recognition of pulmonary exacerbations, and better care for people with CF. Importantly, these approaches might rely on alternative sample types, such as breath, blood, urine, or other airway specimens, to overcome the limitations associated with reduced sputum production.
There is also a need for faster diagnostic approaches tailored to the pathogens most relevant to CF. We need tools that can distinguish between active infection requiring treatment and chronic colonization, identify antimicrobial resistance profiles, and provide earlier indications of pulmonary exacerbation or clinical deterioration. These would help support more targeted and proactive treatment decisions.
Ideally, any new diagnostic approach should also be suitable for use at the point of care or even at home, making monitoring as easy as possible for people with CF who already live with a complex and burdensome regimen.
Why should diagnostics developers consider developing and validating new diagnostic technologies for CF infections?
There is a clear unmet need for better tools to diagnose and manage CF lung infections, and there is already a strong clinical and research infrastructure in place to address it. Faster, more accurate diagnostics could mean earlier and better-targeted treatment, fewer exacerbations, and better long-term lung health for people living with CF.
The CF community is already among the most engaged in research. This drive, along with specialist clinical centers, established registries, well-characterized longitudinal datasets, and strong clinical trial networks, makes it easier for developers to evaluate and advance new technologies.
On top of this, many of the diagnostic challenges in CF are shared with other chronic respiratory diseases. This means that any successful technology developed for CF could ultimately benefit much broader populations, including those living with non-CF bronchiectasis and COPD.
How can innovators benefit from connecting with the CF AMR Syndicate and its networks?
The CF AMR Syndicate was established to help accelerate the development of new antimicrobials and diagnostics to address antimicrobial resistance and improve infection management for people with CF.
Through close engagement with researchers, clinicians, and people with CF, the Syndicate helps innovators understand priority unmet needs and how their emerging technologies could address them. The Syndicate also brings together expertise from across the CF-AMR community to develop resources, like Target Product Profiles, that define the key characteristics required of new diagnostic tests, providing a framework to guide innovation towards areas of greatest impact. All these activities are informed by the insights and lived experiences of people living with CF.
The Syndicate connects innovators with clinical, scientific, and translational experts across its network. It creates opportunities to build partnerships, access specialist expertise, and navigate pathways for the development, validation, and implementation of new diagnostic solutions.
Looking ahead, the Syndicate is planning new opportunities to support diagnostic innovation and connect innovators with the wider CF-AMR community. Further details will be shared in the coming weeks, and innovators are encouraged to stay connected to hear about future opportunities for engagement.
How can researchers connect with the Syndicate?
The best place to start is our website, where you can learn more about the Syndicate, explore our resources, and contact the team directly: https://cfamr.org.uk/.
We welcome conversations at any stage of development, and encourage innovators, funders, and investors to subscribe to our newsletter and follow us on social media for news, events, and other opportunities to get involved.
The CF AMR Syndicate is managed by Medicines Discovery Catapult, Cystic Fibrosis Trust, and LifeArc.
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